Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112088962_112088963insA , CM000673.2:g.112088962_112088963insA	GRCh38
NC_000011.9:g.111959686_111959687insA , CM000673.1:g.111959686_111959687insA	GRCh37
NC_000011.8:g.111464896_111464897insA	NCBI36
NG_012337.2:g.7116_7117insA
NG_033145.1:g.2836_2837insT
NG_012337.3:g.7116_7117insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.265_266insA	ENSP00000432946.2:p.Ser89TyrfsTer?
ENST00000534010.2:c.265_266insA	ENSP00000433202.2:p.Ser89TyrfsTer22
ENST00000375549.8:c.265_266insA MANE Select	ENSP00000364699.3:p.Ser89TyrfsTer25
ENST00000528021.6:c.265_266insA	ENSP00000432465.1:p.Ser89TyrfsTer?
ENST00000640554.1:c.337_338insA	ENSP00000491141.1:n.337_338insA
ENST00000375549.7:c.265_266insA	ENSP00000364699.3:p.Ser89TyrfsTer25
ENST00000525291.5:c.148_149insA	ENSP00000436669.1:p.Ser50TyrfsTer25
ENST00000525987.5:n.270_271insA
ENST00000526592.5:c.265_266insA	ENSP00000432005.1:p.Ser89TyrfsTer?
ENST00000528021.5:c.265_266insA	ENSP00000432465.1:p.Ser89TyrfsTer?
ENST00000528048.5:c.169+989_169+990insA	ENSP00000436217.1:n.169+989_169+990insA
ENST00000528182.5:c.265_266insA	ENSP00000435475.1:p.Ser89TyrfsTer?
ENST00000530923.5:c.255_256insA
ENST00000531744.5:c.265_266insA	ENSP00000456957.1:p.Ser89TyrfsTer?
ENST00000532699.1:c.265_266insA	ENSP00000456434.1:p.Ser89TyrfsTer?
ENST00000534010.1:c.96_97insA
ENST00000614349.4:c.265_266insA	ENSP00000480666.1:p.Ser89TyrfsTer?
NM_001276503.1:c.169+989_169+990insA	NP_001263432.1:n.169+989_169+990insA
NM_001276504.1:c.148_149insA	NP_001263433.1:p.Ser50TyrfsTer25
NM_001276506.1:c.265_266insA	NP_001263435.1:p.Ser89TyrfsTer?
NM_003002.3:c.265_266insA	NP_002993.1:p.Ser89TyrfsTer25
NR_077060.1:n.349_350insA
NM_003002.4:c.265_266insA MANE Select	NP_002993.1:p.Ser89TyrfsTer25
NM_001276503.2:c.169+989_169+990insA	NP_001263432.1:n.169+989_169+990insA
NM_001276504.2:c.148_149insA	NP_001263433.1:p.Ser50TyrfsTer25
NM_001276506.2:c.265_266insA	NP_001263435.1:p.Ser89TyrfsTer?
NR_077060.2:n.300_301insA